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oculocerebrorenal syndrome
Summary
- Synonym
-
- Lowe syndrome
- lowe oculocerebrorenal syndrome
- oculocerebrorenal syndrome of Lowe
- Definition
- A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney.
- Super Class
- X-linked recessive disease syndrome
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002209 | Sparse scalp hair |
| HP:0002213 | Fine hair |
| HP:0002353 | EEG abnormality |
| HP:0002381 | Aphasia |
| HP:0002650 | Scoliosis |
| HP:0002749 | Osteomalacia |
| HP:0002757 | Recurrent fractures |
| HP:0002808 | Kyphosis |
| HP:0002827 | Hip dislocation |
| HP:0002857 | Genu valgum |
